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Disrupted autonomic pathways in spinal cord injury: Implications for the immune regulation
Neurobiol Dis. 2024 Apr 11:106500. doi: 10.1016/j.nbd.2024.106500. Online ahead of print.ABSTRACTSpinal Cord Injury (SCI) disrupts critical autonomic pathways responsible for the regulation of the immune function. Consequently, individuals with SCI often exhibit a spectrum of immune dysfunctions ranging from the development of damaging pro-inflammatory responses to severe immunosuppression. Thus, it is imperative to gain a more comprehensive understanding of the extent and mechanisms through which SCI-induced autonomic dysfunction influences the immune response. In this review, we provide an overview of the anatomical orga...
Source: Neurobiology of Disease - April 13, 2024 Category: Neurology Authors: Maria M Moura Andreia Monteiro Ant ónio J Salgado Nuno A Silva Susana Monteiro Source Type: research

Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination
CONCLUSION: Careful ophthalmological examination prompted the diagnosis and guided molecular testing. This case underlines the importance of a neuro-ophthalmologic assessment in patients with SPG.PMID:38613257 | DOI:10.1177/11206721241247418 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 13, 2024 Category: Opthalmology Authors: Vincent Brock Anna Wissocq Nicolas Geoffre Caroline Marks Vincent Canel Vincent Huin Vasily M Smirnov Source Type: research

Endothelin-1-mediated Brainstem Glial Activation Produces Asthmatic Airway Vagal Hypertonia Via Enhanced ATP-P2X4 Receptor Signaling in Sprague –Dawley Rats
This study tests the hypotheses that endothelin-1-mediated brainstem glial activation produces asthmatic airway vagal hypertonia via enhanced action of adenosine 5 ’-triphosphate on neuronal purinergic P2X4 receptors. A rat model of asthma was prepared using ovalbumin. Airway vagal tone was evaluated by the recurrent laryngeal discharge and plethysmographic measurement of pulmonary function. The changes in the brainstem were examined using ELISA, Western blo t, luciferin-luciferase, quantitative reverse transcription-polymerase chain reaction, enzyme activity assay and immunofluorescent staining, respectively. The result...
Source: Journal of NeuroImmune Pharmacology - April 13, 2024 Category: Drugs & Pharmacology Source Type: research

Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene
Duchenne muscular dystrophy (DMD) is an X-linked, progressive neuromuscular disease caused by mutations in the DMD gene that lead to an absence of functional dystrophin protein [1,2]. DMD affects 1 in 3,600 to 6,000 male neonates worldwide [3,4]. Patients with DMD typically experience motor delays and muscle weakness between 2 and 7 years of age and often have decreased upper limb function, lose ambulation, and become wheelchair-dependent in their early teens [5,6]. Most people with DMD die of cardiac or respiratory failure in their twenties or thirties [1,7,8]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 13, 2024 Category: Neurology Authors: Kay E Davies, Julie Vogt Tags: Case report Source Type: research

Myotonic dystrophy type 1 in South Korea: a comprehensive analysis of cancer and comorbidity risks
ConclusionsDM1 patients have a noteworthy occurrence of several comorbidities such as cancer, diabetes, thyroid dysfunction, and earlier cataract surgery. This highlights the importance of a comprehensive and integrative approach to the management and treatment of DM1, going beyond addressing only the primary neuromuscular symptoms. More research is required to understand the underlying mechanisms contributing to these comorbidities in DM1 patients, which may inform preventative measures and guide improvements in patient care. (Source: Neurological Sciences)
Source: Neurological Sciences - April 13, 2024 Category: Neurology Source Type: research

Lessons from prospective longitudinal follow-up of a French APECED cohort
CONCLUSION: This first prospective cohort showed a high AIRE genotype variability, with two new gene variants. The prevalence of potentially life-threatening non-endocrine manifestations, was higher with systematic screening. These manifestations could, along with age-dependent B-cell lymphopenia, contribute to disease severity. Systematic screening for all the manifestations of the syndrome would allow earlier diagnosis, supporting vaccination, and targeted therapeutic approaches.PMID:38605470 | DOI:10.1210/clinem/dgae211 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 12, 2024 Category: Endocrinology Authors: Linda Humbert Emmanuelle Proust-Lemoine Sylvain Dubucquoi Elisabeth Helen Kemp Pascale Saugier-Veber Nicole Fabien Isabelle Raymond-Top Catherine Cardot-Bauters Jean-Claude Carel Maryse Cartigny Olivier Chabre Philippe Chanson Brigitte Delemer Christine D Source Type: research

Targeted therapeutic options in early and metastatic NSCLC-overview
Pathol Oncol Res. 2024 Mar 28;30:1611715. doi: 10.3389/pore.2024.1611715. eCollection 2024.ABSTRACTThe complex therapeutic strategy of non-small cell lung cancer (NSCLC) has changed significantly in recent years. Disease-free survival increased significantly with immunotherapy and chemotherapy registered in perioperative treatments, as well as adjuvant registered immunotherapy and targeted therapy (osimertinib) in case of EGFR mutation. In oncogenic-addictive metastatic NSCLC, primarily in adenocarcinoma, the range of targeted therapies is expanding, with which the expected overall survival increases significantly, measure...
Source: Pathology Oncology Research - April 12, 2024 Category: Pathology Authors: Gabriella G álffy Éva Morócz R éka Korompay R éka Hécz R éka Bujdosó Rita Pusk ás T ímea Lovas Eszter G áspár Kamel Yahya P éter Király Zolt án Lohinai Source Type: research

Commonality and heterogeneity of pacemaker mechanisms in the male reproductive organs
J Physiol. 2024 Apr 12. doi: 10.1113/JP284756. Online ahead of print.ABSTRACTDuring emission, the first phase of ejaculation, smooth muscle in organs of the male reproductive tract (MRT) vigorously contract upon sympathetic nerve excitation to expel semen consisting of sperm and seminal plasma. During inter-ejaculation phases, the epididymis, seminal vesicles and prostate undergo spontaneous phasic contractions (SPCs), this transporting and maintaining the quality of sperm and seminal plasma. Recent studies have revealed platelet-derived growth factor receptor α-expressing (PDGFRα+) subepithelial interstitial cells in se...
Source: The Journal of Physiology - April 12, 2024 Category: Physiology Authors: Hikaru Hashitani Mitsue Takeya Dirk F van Helden Source Type: research

Targeted therapeutic options in early and metastatic NSCLC-overview
Pathol Oncol Res. 2024 Mar 28;30:1611715. doi: 10.3389/pore.2024.1611715. eCollection 2024.ABSTRACTThe complex therapeutic strategy of non-small cell lung cancer (NSCLC) has changed significantly in recent years. Disease-free survival increased significantly with immunotherapy and chemotherapy registered in perioperative treatments, as well as adjuvant registered immunotherapy and targeted therapy (osimertinib) in case of EGFR mutation. In oncogenic-addictive metastatic NSCLC, primarily in adenocarcinoma, the range of targeted therapies is expanding, with which the expected overall survival increases significantly, measure...
Source: Cell Research - April 12, 2024 Category: Cytology Authors: Gabriella G álffy Éva Morócz R éka Korompay R éka Hécz R éka Bujdosó Rita Pusk ás T ímea Lovas Eszter G áspár Kamel Yahya P éter Király Zolt án Lohinai Source Type: research